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TAT:

10

Tipo di Campione:

Metodica:

Cystic Fibrosis 152 mutations, Europe panel (25 Italian mutations) (NGS CE-IVD)

Geni/Polimorfismi:

CFTR 1078delT, CFTR 1154insTC, CFTR 1213delT, CFTR 1248+1G>A, CFTR 1259insA, CFTR 1341+1G>A, CFTR 1461ins4, CFTR 1525-1G>A, CFTR 1548delG†, CFTR 1577delTA, CFTR 1677delTA, CFTR 1717-1G>A, CFTR 1717-8G>A, CFTR 1811+1.6kb A>G, CFTR 1812-1G>A, CFTR 1898+1G>A, CFTR 1898+3A>G, CFTR 2143delT, CFTR 2184delA, CFTR 2184insA, CFTR 2307insA, CFTR 2347delG, CFTR 2585delT, CFTR 2622+1G>A, CFTR 2711delT, CFTR 2789+5G>A, CFTR 3007delG, CFTR 3120+1G>A, CFTR 3120G>A, CFTR 3121-1G>A, CFTR 3199del6, CFTR 3272-26A>G, CFTR 3659delC, CFTR 3849+10KbC>T, CFTR 3905insT, CFTR 394delTT, CFTR 4005+1G>A, CFTR 4016insT, CFTR 405+1G>A, CFTR 406-1G>A, CFTR 4209TGTT>AA, CFTR 4382delA, CFTR 457TAT>G, CFTR 574delA, CFTR 621+1G>T, CFTR 621+3A>G, CFTR 663delT, CFTR 711+1G>T, CFTR 711+3A>G, CFTR 711+5 G>A, CFTR 712-1G>T, CFTR 852del22, CFTR 991del5, CFTR A455E, CFTR A559T, CFTR D110H, CFTR D1152H, CFTR D579G, CFTR dele2,3, CFTR dele22,23, CFTR E1104X, CFTR E217G, CFTR E585X, CFTR E60X, CFTR E822X, CFTR E831X, CFTR E92K, CFTR E92X, CFTR F508C, CFTR F508del, CFTR G1244E, CFTR G178R, CFTR G330X, CFTR G542X, CFTR G551D, CFTR G85E, CFTR G970R, CFTR H199Y, CFTR I148T+3199del6, CFTR I336K, CFTR I502T, CFTR I506V, CFTR I507del, CFTR I507V, CFTR IVS8-polyT, CFTR K710X, CFTR L1065P, CFTR L206W, CFTR L467P, CFTR L732X, CFTR L927P, CFTR M1101K, CFTR M1V, CFTR N1303K, CFTR P205S, CFTR P67L, CFTR polyTG, CFTR Q1313X, CFTR Q220X, CFTR Q39X, CFTR Q493X, CFTR Q525X†, CFTR Q552X, CFTR Q890X, CFTR Q98X, CFTR R1066C, CFTR R1066H, CFTR R1070Q, CFTR R1158X, CFTR R1162X, CFTR R117C, CFTR R117H, CFTR R334Q, CFTR R334W, CFTR R347H, CFTR R347P, CFTR R553X, CFTR R560K, CFTR R560T, CFTR R709X, CFTR R75X, CFTR R764X, CFTR R851X, CFTR S1196X, CFTR S1251N, CFTR S341P, CFTR S466X (C>A), CFTR S466X (C>G), CFTR S489X, CFTR S492F, CFTR S549N, CFTR S549R (c.1645A>C), CFTR S549R (c.1647T>G), CFTR S912X, CFTR S945L, CFTR T338I, CFTR V520F, CFTR W1089X, CFTR W1204X (c.3611G>A), CFTR W1204X (c.3612G>A), CFTR W1282X, CFTR W401X (c.1202G>A), CFTR W401X (c.1203G>A), CFTR W846X, CFTR Y1092X (C>A), CFTR Y1092X (C>G), CFTR Y122X

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